Incidental Mutation 'IGL01315:Tars1'
| ID |
73833 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tars1
|
| Ensembl Gene |
ENSMUSG00000022241 |
| Gene Name |
threonyl-tRNA synthetase 1 |
| Synonyms |
D15Wsu59e, Tars, ThrRS |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
IGL01315
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
11383749-11399744 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to C
at 11389820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 363
(Y363*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022849]
[ENSMUST00000228814]
|
| AlphaFold |
Q9D0R2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022849
AA Change: Y363*
|
| SMART Domains |
Protein: ENSMUSP00000022849
Gene: ENSMUSG00000022241
AA Change: Y363*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
45 |
N/A |
INTRINSIC |
|
Pfam:TGS
|
82 |
142 |
7.5e-18 |
PFAM |
|
tRNA_SAD
|
248 |
297 |
1.91e-16 |
SMART |
|
Pfam:tRNA-synt_2b
|
396 |
607 |
5e-38 |
PFAM |
|
Pfam:HGTP_anticodon
|
619 |
710 |
6.5e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226597
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226904
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226944
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228207
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228710
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228814
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Threonyl-tRNA synthetase belongs to the class-II aminoacyl-tRNA synthetase family [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl5 |
T |
C |
5: 31,050,578 (GRCm39) |
S409P |
probably benign |
Het |
| Ankdd1a |
T |
A |
9: 65,415,984 (GRCm39) |
H187L |
probably damaging |
Het |
| Ap2a1 |
A |
T |
7: 44,565,713 (GRCm39) |
D51E |
possibly damaging |
Het |
| Ccn3 |
T |
C |
15: 54,612,656 (GRCm39) |
S222P |
probably damaging |
Het |
| Cog5 |
T |
A |
12: 31,810,985 (GRCm39) |
|
probably benign |
Het |
| Eif3h |
T |
C |
15: 51,705,881 (GRCm39) |
D91G |
probably damaging |
Het |
| Ell2 |
A |
G |
13: 75,910,351 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
A |
G |
1: 77,375,194 (GRCm39) |
V551A |
probably benign |
Het |
| Gpc2 |
A |
G |
5: 138,274,301 (GRCm39) |
S354P |
probably benign |
Het |
| Gramd1a |
A |
G |
7: 30,841,993 (GRCm39) |
F140L |
probably damaging |
Het |
| Hnmt |
A |
G |
2: 23,909,180 (GRCm39) |
Y78H |
probably benign |
Het |
| Ighe |
T |
A |
12: 113,234,972 (GRCm39) |
H396L |
unknown |
Het |
| Krt87 |
A |
G |
15: 101,384,848 (GRCm39) |
|
probably benign |
Het |
| Mgat5b |
T |
C |
11: 116,814,215 (GRCm39) |
S40P |
probably damaging |
Het |
| Mov10 |
A |
G |
3: 104,703,261 (GRCm39) |
V876A |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,320,500 (GRCm39) |
V2031A |
probably damaging |
Het |
| Ntm |
T |
A |
9: 28,925,480 (GRCm39) |
S26C |
probably damaging |
Het |
| Pcsk5 |
G |
A |
19: 17,429,322 (GRCm39) |
T1552I |
probably damaging |
Het |
| Pex1 |
A |
T |
5: 3,659,975 (GRCm39) |
D453V |
probably damaging |
Het |
| Pkd2l1 |
C |
T |
19: 44,180,635 (GRCm39) |
D27N |
probably benign |
Het |
| Plppr5 |
G |
T |
3: 117,456,175 (GRCm39) |
C232F |
probably damaging |
Het |
| Slc39a2 |
G |
T |
14: 52,132,593 (GRCm39) |
E179* |
probably null |
Het |
| Slc8a3 |
A |
G |
12: 81,361,169 (GRCm39) |
V550A |
probably damaging |
Het |
| Smc5 |
T |
A |
19: 23,208,968 (GRCm39) |
T626S |
probably benign |
Het |
| Unc79 |
T |
C |
12: 103,054,780 (GRCm39) |
I906T |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,365,811 (GRCm39) |
P2222S |
possibly damaging |
Het |
| Wdr31 |
A |
C |
4: 62,374,074 (GRCm39) |
V306G |
probably damaging |
Het |
| Zdhhc1 |
C |
A |
8: 106,199,630 (GRCm39) |
R389S |
probably benign |
Het |
|
| Other mutations in Tars1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00551:Tars1
|
APN |
15 |
11,388,307 (GRCm39) |
splice site |
probably null |
|
|
IGL00642:Tars1
|
APN |
15 |
11,394,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01459:Tars1
|
APN |
15 |
11,391,940 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02141:Tars1
|
APN |
15 |
11,391,280 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03292:Tars1
|
APN |
15 |
11,384,107 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0383:Tars1
|
UTSW |
15 |
11,390,411 (GRCm39) |
missense |
probably benign |
|
|
R0517:Tars1
|
UTSW |
15 |
11,394,452 (GRCm39) |
nonsense |
probably null |
|
|
R0685:Tars1
|
UTSW |
15 |
11,385,259 (GRCm39) |
missense |
probably benign |
|
|
R1589:Tars1
|
UTSW |
15 |
11,388,261 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1753:Tars1
|
UTSW |
15 |
11,394,329 (GRCm39) |
nonsense |
probably null |
|
|
R2051:Tars1
|
UTSW |
15 |
11,393,280 (GRCm39) |
nonsense |
probably null |
|
|
R2060:Tars1
|
UTSW |
15 |
11,394,459 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2216:Tars1
|
UTSW |
15 |
11,389,794 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3610:Tars1
|
UTSW |
15 |
11,392,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4656:Tars1
|
UTSW |
15 |
11,394,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4844:Tars1
|
UTSW |
15 |
11,385,281 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4974:Tars1
|
UTSW |
15 |
11,390,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5551:Tars1
|
UTSW |
15 |
11,392,068 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5992:Tars1
|
UTSW |
15 |
11,397,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6742:Tars1
|
UTSW |
15 |
11,394,427 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6778:Tars1
|
UTSW |
15 |
11,389,785 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6850:Tars1
|
UTSW |
15 |
11,392,885 (GRCm39) |
missense |
probably benign |
|
|
R7270:Tars1
|
UTSW |
15 |
11,392,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7401:Tars1
|
UTSW |
15 |
11,392,095 (GRCm39) |
nonsense |
probably null |
|
|
R7743:Tars1
|
UTSW |
15 |
11,399,458 (GRCm39) |
splice site |
probably null |
|
|
R8062:Tars1
|
UTSW |
15 |
11,388,400 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8852:Tars1
|
UTSW |
15 |
11,393,348 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8942:Tars1
|
UTSW |
15 |
11,384,183 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9205:Tars1
|
UTSW |
15 |
11,397,265 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9362:Tars1
|
UTSW |
15 |
11,387,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9668:Tars1
|
UTSW |
15 |
11,394,446 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Tars1
|
UTSW |
15 |
11,391,970 (GRCm39) |
missense |
probably benign |
0.24 |
|
| Posted On |
2013-10-07 |
Incidental Mutation